Varaico: Literature-Extracted Genetic Variants

Gene:NPHP1
Variant:p.M1insFs
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NPHP1

NM_001128178.3:p.M1insFs

Associated Papers

CLINICAL AND COGNITIVE PHENOTYPING OF COPY NUMBER VARIANTS ASSOCIATED WITH NEURODEVELOPMENTAL DISORDERS FROM A MULTI-ANCESTRY BIOBANK.

Zaks N et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank.

Crawford K et al.

Journal of Medical Genetics, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."